NCBI
dbSNP
Attention: This page will be retired!
This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
Spacer gif

Spacer gif
Reference SNP (refSNP) Cluster Report: rs9414742                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.3427/1716 (1000 Genomes)
T=0.3393/42607 (TOPMED)
HGVS Names
  • CM000672.2:g.60739769C>T
  • NC_000010.10:g.62499527C>T
  • NC_000010.11:g.60739769C>T
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss280640372 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9414742 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss12953972SC_SNP|NT_008583.15_11050675fwd/BC/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa10/22/0310/31/03119Genomicunknown
ss19155954CSHL-HAPMAP|CSHL-HuDD-200402.chr10.NT_008583.16_11050682fwd/BC/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa02/20/0403/04/04120Genomicunknown
ss24059104PERLEGEN|afd2257731byFreqfwd/BC/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa08/10/0409/13/04123Genomicunknown
ss38565373ABI|hCV110494byFreqfwd/BC/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa07/15/0511/02/06126Genomicunknown
ss78083792HGSV|Cor12878_SNV_20070510.chr10_62169533fwd/BC/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa10/17/0710/17/07129Genomicunknown
ss1094907751000GENOMES|CEU.trio.12.15.2008_2363538_chr10_62169533fwd/BC/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa12/16/0812/16/08130Genomicunknown
ss1133473151000GENOMES|NA19240_2008_12_16_2134798_chr10_62169533fwd/BC/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa12/18/0812/18/08130Genomicunknown
ss119190042ILLUMINA-UK|NA18507_000080417_NCBI36.1_chr10_62169533fwd/BC/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa01/21/0901/22/09130Genomic99 %
ss155112004GMI|GMI_SNP_136973961fwd/BC/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa06/24/0906/24/09131Genomicunknown
ss161351845ENSEMBL|ENSSNP424519fwd/BC/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa09/24/0909/24/09131Genomicunknown
ss170175160COMPLETE_GENOMICS|NA19240_36_chr10_62169533fwd/BC/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa10/01/0910/04/09132Genomicunknown
ss174574902COMPLETE_GENOMICS|NA20431_36_chr10_62169533fwd/BC/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa10/01/0910/04/09132Genomicunknown
ss207272878BCM-HGSC-SUB|BCM_CMT_1011-2047479fwd/BC/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa03/15/1003/18/10132Genomicunknown
ss2247582171000GENOMES|pilot_1_YRI_6567900_chr10_62169533fwd/C/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa04/22/1004/22/10132Genomicunknown
ss2351992441000GENOMES|pilot_1_CEU_4803873_chr10_62169533fwd/C/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa05/01/1005/01/10132Genomicunknown
ss2419004921000GENOMES|pilot_1_CHB+JPT_3785569_chr10_62169533fwd/C/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa05/01/1005/01/10132Genomicunknown
ss280640372GMI|GMI_AK_SNP_4960707fwd/C/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa12/16/1012/16/10137Genomicunknown
ss290850622PJP|SNP_356980_chr10_62169533fwd/C/Tcattgtctgactcaacatatttgagataacaattgttgattttaaaaatccagtcccaaa01/21/1101/21/11134Genomicunknown
ss561992878TISHKOFF|snp_chr10_62499527fwd/BC/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc11/22/1211/23/12138Genomicunknown
ss656817582SSMP|10_62499527fwd/BC/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc12/14/1202/12/15138Genomicunknown
ss987549617EVA-GONL|EVA-GONL_rs9414742fwd/BC/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc04/23/1404/25/14142Genomicunknown
ss1077032126JMKIDD_LAB|HGDP_WGS_chr10_62499527fwd/BC/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc07/10/1407/11/14142Genomicunknown
ss13376669161000GENOMES|PHASE3_V1_50329589fwd/C/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc08/16/1408/16/14142Genomicunknown
ss1426339506DDI|DDI_rs9414742fwd/BC/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc11/04/1411/04/14144Genomicunknown
ss1575154095EVA_GENOME_DK|EVA_GENOME_DK_snv_rs9414742fwd/BC/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc02/19/1502/19/15144Genomicunknown
ss1597216073EVA_DECODE|EVA_DECODE_10_62169533_472058_rs9414742fwd/BC/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc03/02/1503/03/15144Genomicunknown
ss1624686409EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_10_62499527_27785651fwd/C/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc03/04/1503/04/15144Genomicunknown
ss1667680442EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_10_62499527_27785651fwd/C/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc03/04/1503/04/15144Genomicunknown
ss1806415889HAMMER_LAB|Hsieh_5434043fwd/BC/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc07/15/1507/16/15146Genomicunknown
ss1930913537WEILL_CORNELL_DGM|SNV:chr10:62499527fwd/BC/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc10/16/1510/17/15147Genomicunknown
ss1967142909GENOMED|rs9414742fwd/BC/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc02/16/1602/16/16147Genomicunknown
ss2026180013JJLAB|SNP6682568fwd/BC/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc08/29/1608/30/16149Genomicunknown
ss2154453162USC_VALOUEV|NC_000010.10:g.62499527C>Tfwd/C/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc11/17/1611/17/16150Genomicunknown
ss2175215839HUMAN_LONGEVITY|HLI-10-60739769-C-Tfwd/C/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc11/18/1611/18/16150Genomicunknown
ss2698697277GRF|rs9414742fwd/C/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc02/13/1702/13/17151Genomicunknown
ss2889428050GNOMAD|rs9414742fwd/C/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc05/19/1705/19/17151Genomicunknown
ss3006572560SWEGEN|NC_000010.10:g.62499527C>Tfwd/C/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc05/30/1705/30/17151Genomicunknown
ss3026881147BIOINF_KMB_FNS_UNIBA|10.60739769C>Tfwd/C/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc07/05/1707/05/17151Genomicunknown
ss3349150221CSHL|rs9414742fwd/C/Ttctgactcaacatatttgagataacaattgttgattttaaaaatccagtc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9414742|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AAGAGATGAT GTTTAATGAA TGTGTGTTTC TTTCACAAAA GTAGTAATAG AAAACATTTC
 TCAAAGAGAT ATATATTTGT TTACCACAAG CCGTGGGGAG TATGATGGTA TGTAGAAATA
 TGTCCCTTAA TTTGTGACTT TAATGAAGGA AAACAGCTCA CCAAGCGCAA AGTTGAATCA
 AAATGTTTTC TCTCCTGTGG CTTTTGGCCT TTCCCCTCCA GTATGGTCTC AACTGGGTAG
 AAACTCATAT TTTTAAATAC ACAATAAATA TCATGGCTTA GCAATCTTTT TATCAAAATC
 AAGTGGAATG AGAGTATAAT GTTTATTTAT CAAGTTAGTT TTGCAATCCC ATGTAGAATA
 TGGTTAAGTA ACTTATTTTA GTGTCTATTT CCATTTCTTA ATCCTTTAAG TTTTTCTAAA
 ACATTTGAAA GGAAATAGAG ATTATCTGAT ATATGCTGTA AAATGACAAA CATTGTCTGA
 CTCAACATAT TTGAGATAAC
 Y
 AATTGTTGAT TTTAAAAATC CAGTCCCAAA GTAGCTTATG AAATAGGATA AGAAACTTCA
 TATTAGAGTT ACAGAAGACA AAATAATCAG TGTGATTCAT TCTACTTTAT CTCCACATTT
 TGACTGGAAC TTTTCATCAC TTCTTTTTAT TCACTTTGGT CTGGGATTTC AAAAACATTT
 AAAGTGATGG CAATATGTAT AATGGTAATA TCAATCTTTA AAAATACACA TAAAAAGTTA
 ACATAAAGGA AAACTAACTG ATTAGTGACA GAAAATAAAC TGGTAACTTT TAGCCACTTA
 TAAATAAGAA AAAGCAAACT TTGTTACCTT TGCCTGAATT CCCAGTGAAT TGAACTGTGT
 TGGTTCTAGT TGCGCGTGTT TGGGAAAGAA AAGGAAAGAG AAACTTTATT TTGTTCATTG
 GCATGGCATC TAGGATGCAG GGGAAGAGGA ATAAAAAAAG TGACACCTTC AGAACAGAAT
 TTGGGGGAAT AAAGAGGGCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008583
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss119190042YRI 2IG 1.00000000 0.500000000.50000000
ss1337666916EAS 1008AF 0.532700000.46730000
EUR 1006AF 0.708700000.29130000
AFR 1322AF 0.599099990.40090001
AMR 694AF 0.678699970.32130000
SAS 978AF 0.796499970.20349999
ss161351845ENSEMBL_celera 6IG0.666666690.33333334 0.833333310.16666667
ss170175160YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss174574902PGP 2IG 1.00000000 1.00000000
ss224758217pilot_1_YRI_low_coverage_panel 118AF 0.559322060.44067797
ss235199244pilot_1_CEU_low_coverage_panel 120AF 0.766666650.23333333
ss24059104AFD_EUR_PANELEuropean 48IG0.416666660.375000000.208333330.294266000.604166690.39583334
AFD_AFR_PANELAfrican American 46IG0.478260870.347826090.173913050.273322000.652173940.34782609
AFD_CHN_PANELAsian 48IG0.291666660.500000000.208333331.000000000.541666690.45833334
ss241900492pilot_1_CHB+JPT_low_coverage_panel 120AF 0.625000000.37500000
ss38565373HapMap-CEUEuropean 118IG0.525423710.372881350.101694910.527089000.711864410.28813559
HapMap-HCBAsian 90IG0.288888900.466666670.244444440.751830000.522222220.47777778
HapMap-JPTAsian 86IG0.488372090.488372090.023255810.150222000.732558130.26744187
HapMap-YRISub-Saharan African 120IG0.316666660.550000010.133333340.294266000.591666640.40833333

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.450+/-0.1490000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN